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Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients.
Pediatr Res. 2019 Jan;85(2):242-250. doi: 10.1038/s41390-018-0202-x. Epub 2018 Oct 17.
Pediatr Res. 2019.
PMID: 30333522
Review.
Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy.
Vitoria I, Dalmau J, Ribes C, Rausell D, García AM, López-Montiel J, Rubio V.
Vitoria I, et al. Among authors: rausell d.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):181-3. doi: 10.1016/j.ymgme.2013.06.011. Epub 2013 Jun 21.
Mol Genet Metab. 2013.
PMID: 23835251
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[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].
Vitoria I, Rausell D, González I, Pérez-Cerdá C, Dalmau J.
Vitoria I, et al. Among authors: rausell d.
An Pediatr (Barc). 2014 Mar;80(3):184-6. doi: 10.1016/j.anpedi.2013.05.035. Epub 2013 Oct 5.
An Pediatr (Barc). 2014.
PMID: 24099927
Free article.
Spanish.
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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Alcaide P, Ferrer-López I, Gutierrez L, Leal F, Martín-Hernández E, Quijada-Fraile P, Bellusci M, Moráis A, Pedrón-Giner C, Rausell D, Correcher P, Unceta M, Stanescu S, Ugarte M, Ruiz-Sala P, Pérez B.
Alcaide P, et al. Among authors: rausell d.
J Clin Med. 2022 May 23;11(10):2933. doi: 10.3390/jcm11102933.
J Clin Med. 2022.
PMID: 35629059
Free PMC article.
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Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.
Vitoria I, Melendreras F, Vázquez-Palazón A, Rausell D, Correcher P, González-Lamuño D, García-Peris M.
Vitoria I, et al. Among authors: rausell d.
Nutrients. 2023 Jan 23;15(3):594. doi: 10.3390/nu15030594.
Nutrients. 2023.
PMID: 36771301
Free PMC article.
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